CHRNG Gene: Cholinergic Receptor Nicotinic Gamma Subunit
Genetic insights into CHRNG, its role in neuromuscular development, and associated disorders.
Gene Information Card
| Symbol | CHRNG |
|---|---|
| Full Name | Cholinergic Receptor Nicotinic Gamma Subunit |
| Gene Type | protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 1146 ncbi.nlm.nih.gov/gene/1146 |
| Ensembl ID | ENSG00000196876 |
| UniProt ID | P07510 |
| OMIM ID | 100730 |
| HGNC ID | 1966 |
| Aliases | ACHRG, CMS1D, MGC33446 |
Description
The CHRNG gene encodes the gamma subunit of the nicotinic acetylcholine receptor (nAChR), a pentameric ligand-gated ion channel that mediates fast synaptic transmission at the neuromuscular junction. During fetal development, the gamma subunit is expressed in skeletal muscle and is essential for proper neuromuscular synapse formation. Postnatally, its expression is largely replaced by the epsilon subunit (CHRNE). Mutations in CHRNG are associated with autosomal recessive multiple pterygium syndrome (Escobar variant) and lethal multiple pterygium syndrome, characterized by joint contractures, pterygia, and fetal akinesia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Pterygium Syndrome, Escobar Variant | Loss-of-function mutations in CHRNG lead to reduced or absent gamma subunit, impairing fetal nAChR function and causing neuromuscular development defects. | ClinVar, OMIM |
| Lethal Multiple Pterygium Syndrome | Severe loss-of-function mutations (e.g., frameshift, nonsense) result in complete absence of functional fetal nAChR, leading to fetal akinesia and lethality. | OMIM, PubMed |
| Congenital Myasthenic Syndrome (rare) | Some CHRNG mutations may contribute to myasthenic phenotypes, though primarily associated with other nAChR subunits. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 0.0 | Not detected (adult) |
| Fetal Muscle | High | Developmental expression |
| Placenta | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RHABDOMYOSARCOMA (RD) | 0.0 | No expression in adult cell lines |
| SK-UT-1 | 0.0 | No expression |
| C2C12 (mouse myoblast) | High | Model for fetal muscle development |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.IVS2-2A>G | Splice site | Rare | Loss of function, causes Escobar syndrome |
| p.Arg87Ter | Nonsense | Rare | Loss of function, lethal phenotype |
| p.Cys240Tyr | Missense | Rare | Loss of function, disrupts subunit assembly |
Mutation functional classification
Loss of Function (LOF)
Most CHRNG mutations are loss-of-function, leading to reduced or absent gamma subunit, impairing fetal nAChR activity.
Gain of Function (GOF)
No gain-of-function mutations reported for CHRNG.
Dominant Negative (DN)
No dominant-negative effects documented; CHRNG mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • acetylcholine-gated monoatomic cation channel activity | • integral component of plasma membrane |
| • chemical synaptic transmission | • muscle contraction |
| • response to acetylcholine |
Pathways
• Acetylcholine signaling at neuromuscular junction
• Nicotinic acetylcholine receptor signaling pathway
Protein Summary
The CHRNG protein (UniProt P07510) is a 517-amino acid subunit of the fetal nicotinic acetylcholine receptor (nAChR). It contains four transmembrane domains (M1-M4) and a large extracellular N-terminal domain that contributes to ligand binding. The gamma subunit is essential for the assembly and function of the fetal (α2βγδ) receptor, which is critical for muscle development. In adults, the gamma subunit is replaced by epsilon, forming the adult (α2βδε) receptor. Mutations affecting the gamma subunit disrupt receptor function, leading to neuromuscular disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHRNG Knockout HEK293 Cell Line | EDJ-KQ4277 | Human | 1146 | Details Get a Quote |
| CHRNG Knockout HeLa Cell Line | EDJ-KQ52910 | Human | 1146 | Details Get a Quote |
| CHRNG Knockout A-549 Cell Line | EDJ-KQ61376 | Human | 1146 | Details Get a Quote |
| CHRNG Knockout HCT 116 Cell Line | EDJ-KQ69872 | Human | 1146 | Details Get a Quote |
